Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912058T>A , CM000674.2:g.4912058T>A | GRCh38 |
| NC_000012.11:g.5021224T>A , CM000674.1:g.5021224T>A | GRCh37 |
| NC_000012.10:g.4891485T>A | NCBI36 |
| NG_011815.1:g.7152T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.680T>A MANE Select | ENSP00000371985.3:p.Leu227Gln | |
| ENST00000543874.3:n.105+1586T>A | ||
| ENST00000639306.1:c.518T>A | ENSP00000492506.1:p.Leu173Gln | |
| ENST00000382545.3:c.680T>A | ENSP00000371985.3:p.Leu227Gln | |
| ENST00000541095.1:n.105+1586T>A | ||
| ENST00000543874.2:n.96+1586T>A | ||
| NM_000217.2:c.680T>A | NP_000208.2:p.Leu227Gln | |
| NM_000217.3:c.680T>A MANE Select | NP_000208.2:p.Leu227Gln |